rs111033571

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	3	Carrier of a Bardet-Biedl syndrome mutation
(T;T)	5	Bardet-Biedl syndrome 11 (reported)

Reference

GRCh38 38.1/141

Chromosome

9

Position

116698130

Gene	ASTN2, TRIM32

is a	snp
is	mentioned by
dbSNP	rs111033571
dbSNP (classic)	rs111033571
ClinGen	rs111033571
ebi	rs111033571
HLI	rs111033571
Exac	rs111033571
Gnomad	rs111033571
Varsome	rs111033571
LitVar	rs111033571
Map	rs111033571
PheGenI	rs111033571
Biobank	rs111033571
1000 genomes	rs111033571
hgdp	rs111033571
ensembl	rs111033571
geneview	rs111033571
scholar	rs111033571
google	rs111033571
pharmgkb	rs111033571
gwascentral	rs111033571
openSNP	rs111033571
23andMe	rs111033571
SNPshot	rs111033571
SNPdbe	rs111033571
MSV3d	rs111033571
GWAS Ctlg	rs111033571

Max Magnitude

5

aka c.388C>T (p.Pro130Ser or P130S)

OMIM	602290
Desc
Variant	0002
Related	also

ClinVar
Risk	Rs111033571(T;T)
Alt	Rs111033571(T;T)
Reference	Rs111033571(C;C)
Significance	Pathogenic
Disease	Bardet-Biedl syndrome 11 Bardet-Biedl syndrome
Variation	info
Gene	TRIM32 ASTN2
CLNDBN	Bardet-Biedl syndrome 11 Bardet-Biedl syndrome
Reversed	0
HGVS	NC_000009.11:g.119460409C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000007776.7, RCV000199127.2,